A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase.

Citation data:

Biochimica et biophysica acta, ISSN: 0006-3002, Vol: 1861, Issue: 1 Pt A, Page: 3388-3398

Publication Year:
2017
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PMID:
27592162
DOI:
10.1016/j.bbagen.2016.08.021
PMCID:
PMC5148651
Author(s):
C. A. Maile; R. J. Piercy; J. R. Hingst; J. F.P. Wojtaszewski; K. K. Mahalingan; T. D. Hurley; A. O. O'Reilly; M. E. Cleasby; J. R. Mickelson; M. E. McCue; S. M. Anderson Show More Hide
Publisher(s):
Elsevier BV
Tags:
Biochemistry, Genetics and Molecular Biology
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article description
Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle.